Gene Gene information from NCBI Gene database.
Entrez ID 166336
Gene name Prickle planar cell polarity protein 2
Gene symbol PRICKLE2
Synonyms (NCBI Gene)
EPM5
Chromosome 3
Chromosome location 3p14.1
Summary This gene encodes a homolog of Drosophila prickle. The exact function of this gene is not known, however, studies in mice suggest that it may be involved in seizure prevention. Mutations in this gene are associated with progressive myoclonic epilepsy type
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs180903875 A>C,G Conflicting-interpretations-of-pathogenicity, benign Intron variant
rs202170644 C>G Pathogenic, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs727504105 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs797045065 C>- Pathogenic Frameshift variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
1398
miRTarBase ID miRNA Experiments Reference
MIRT017351 hsa-miR-335-5p Microarray 18185580
MIRT030840 hsa-miR-21-5p Microarray 18591254
MIRT555246 hsa-miR-19b-3p PAR-CLIP 21572407
MIRT555245 hsa-miR-19a-3p PAR-CLIP 21572407
MIRT555244 hsa-miR-203a-3p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0001825 Process Blastocyst formation ISS
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus ISS
GO:0005737 Component Cytoplasm IDA
GO:0008270 Function Zinc ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608501 20340 ENSG00000163637
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z3G6
Protein name Prickle-like protein 2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06297 PET 35 119 PET Domain Domain
PF00412 LIM 130 191 LIM domain Domain
PF00412 LIM 195 251 LIM domain Domain
PF00412 LIM 255 313 LIM domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, eye and testis. Additionally in fetal brain, adult cartilage, pancreatic islet, gastric cancer and uterus tumors. {ECO:0000269|PubMed:12525887}.
Sequence
MVTVMPLEMEKTISKLMFDFQRNSTSDDDSGCALEEYAWVPPGLKPEQVHQYYSCLPEEK
VPYVNSPGEKLRIKQLLHQLPPHDNEVRYCNSLDEEEKRELKLFSSQRKRENLGRGNVR
P
FPVTMTGAICEQCGGQINGGDIAVFASRAGHGVCWHPPCFVCTVCNELLVDLIYFYQDGK
IYCGRHHAECL
KPRCAACDEIIFADECTEAEGRHWHMKHFCCFECETVLGGQRYIMKEGR
PYCCHCFESLY
AEYCDTCAQHIGIDQGQMTYDGQHWHATETCFCCAHCKKSLLGRPFLPK
QGQIFCSRACSAG
EDPNGSDSSDSAFQNARAKESRRSAKIGKNKGKTEEPMLNQHSQLQV
SSNRLSADVDPLSLQMDMLSLSSQTPSLNRDPIWRSREEPYHYGNKMEQNQTQSPLQLLS
QCNIRTSYSPGGQGAGAQPEMWGKHFSNPKRSSSLAMTGHAGSFIKECREDYYPGRLRSQ
ESYSDMSSQSFSETRGSIQVPKYEEEEEEEGGLSTQQCRTRHPISSLKYTEDMTPTEQTP
RGSMESLALSNATGLSADGGAKRQEHLSRFSMPDLSKDSGMNVSEKLSNMGTLNSSMQFR
SAESVRSLLSAQQYQEMEGNLHQLSNPIGYRDLQSHGRMHQSFDFDGGMAGSKLPGQEGV
RIQPMSERTRRRATSRDDNRRFRPHRSRRSRRSRSDNALHLASEREAISRLKDRPPLRAR
EDYDQFMRQRSFQESMGHGSRRDLYGQCPRTVSDLALQNAFGDRWGPYFAEYDWCSTCSS
SSESDNEGYFLGEPIPQPARLRYVTSDELLHKYSSYGLPKSSTLGGRGQLHSRKRQKSKN
CIIS
Sequence length 844
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Wnt signaling pathway  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
36
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Progressive myoclonic epilepsy type 5 Pathogenic rs797045065 RCV000191122
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal dominant non-syndromic intellectual disability Uncertain significance ClinVar
Disgenet, Orphanet
Disgenet, Orphanet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
BENIGN ENDOCRINE NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthma Asthma GWASCAT_DG 25918132
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 34092786 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 23711981, 30814664
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 34092786 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 40581983 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 23478628 Associate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 34092786 Associate
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy BEFREE 30814664
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy Pubtator 34092786 Associate
★☆☆☆☆
Found in Text Mining only
Epilepsy, Rolandic Epilepsy CLINVAR_DG 29358611
★★☆☆☆
Found in Text Mining + Unknown/Other Associations